LRMDA - leucine rich melanocyte differentiation associated Gene

中文名称：富亮氨酸的黑素细胞分化相关

种属: Homo sapiens

同用名: CDA017; C10orf11

基因 ID: 83938 | 基因类型: protein coding

关于 LRMDA

Cytogenetic location: 10q22.2-q22.3 Genomic coordinates (GRCh38): 10:75,431,624-76,560,168 (from NCBI)

This gene has 16 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 1.6), spleen (RPKM 0.7) and 24 other tissues.

功能概要

该基因编码富含亮氨酸的重复蛋白。编码的蛋白质被认为在黑素细胞分化中发挥作用。该基因的突变与常染色体隐性眼皮肤白化病 7 (OCA7) 相关。已经鉴定出可变剪接的转录物变体。[RefSeq 提供，2015 年 3 月]

This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

LRMDA 基因产物(2)

mRNA	Protein	Name
NM_001305581.2	NP_001292510.1	leucine-rich melanocyte differentiation-associated protein isoform 1
NM_032024.5	NP_114413.1	leucine-rich melanocyte differentiation-associated protein isoform 2

基因本体论

生物过程

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in melanocyte differentiation	IMP IMP: 通过突变表型推断	23395477	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LRMDA 蛋白结构

LRR_9

0
100
198 a.a.

蛋白主名

其他名称

leucine-rich melanocyte differentiation-associated protein

leucine-rich repeat-containing protein C10orf11

关联疾病

疾病名称

别名

Albinism, Oculocutaneous, Type Vii

OCA7	Oculocutaneous Albinism Type 7
Oculocutaneous Albinism Type Vii	Albinism, Oculocutaneous, 7

Albinism

Oculocutaneous Albinism

Albinism, Oculocutaneous	Oca
Albinism Oculocutaneous	Oca - [Oculocutaneous Albinism]

Albinism, Oculocutaneous, Type Ib

OCA1B	Oculocutaneous Albinism Type 1b
Albinism, Yellow Mutant Type	Yellow Albinism
Oculocutaneous Albinism Type Ib	Temperature-Sensitive Oculocutaneous Albinism Type 1
Oculocutaneous Albinism, Type Ib	Yellow Mutant Albinism
Oca1-Ts	Ts Oca Type 1
Oculocutaneous Albinism, Amish Type	Platinum Oculocutaneous Albinism
Yellow Oculocutaneous Albinism	Albinism, Oculocutaneous, 1b
Albinism Yellow Mutant Type	Oca-Ib
Oca-Its	Oculocutaneous Albinism Type I Temperature-Sensitive
Albinism, Oculocutaneous, Type I, Temperature-Sensitive	Minimal Pigment Oculocutaneous Albinism

Albinism, Oculocutaneous, Type Iv

OCA4	Oculocutaneous Albinism Type 4
Oculocutaneous Albinism, Type Iv	Oculocutaneous Albinism Type Iv
Albinism, Oculocutaneous, 4

Albinism, Oculocutaneous, Type Iii

Rufous Oculocutaneous Albinism	Oculocutaneous Albinism Type 3
OCA3	Roca
Xanthism	Oculocutaneous Albinism Type Iii
Albinism Iii	Oculocutaneous Albinism, Type Iii
Albinism 3	Albinism, Oculocutaneous, Type 3
Rufous Oca	Red Oculocutaneous Albinism
Xanthous Oculocutaneous Albinism	Albinism, Oculocutaneous, 3
Oca-Iii

Aland Island Eye Disease

AIED	Forsius-Eriksson Type Ocular Albinism
Forsius-Eriksson Syndrome	Autoimmune Inner Ear Disease
Forsius Eriksson Type Ocular Albinism	Aland Islands Eye Disease
Aaland Island Eye Disease	Ocular Albinism, Type Ii

Pathologic Nystagmus

Nystagmus

Ocular Albinism

Albinism, Ocular	Oa
Xloa	Albinism Ocular

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Albinism, Oculocutaneous, Type Ii

OCA2	Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type Ii	Albinoidism
Tyrosinase-Positive Oculocutaneous Albinism	Brown Oculocutaneous Albinism
Oculocutaneous Albinism, Tyrosinase-Positive	Albinism Ii
Albinism, Brown Oculocutaneous	Oculocutaneous Albinism, Type Ii, Modifier Of
Oculocutaneous Albinism, Type Ii	Albinism, Oculocutaneous, Type Ii, Modifier Of
Albinism 2	Albinism, Oculocutaneous, Type 2
Oculocutaneous Albinism Tyrosinase Positive	Oculocutaneous Albinism, Tyrosinase Positive
Albinism, Oculocutaneous, 2	Boca
Oca-2	Oculocutaneous Albinism Tyrosinase-Positive

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07791	LRMDA Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	LRMDA	RGD	RGD:1596707
Mus musculus	LRMDA	MGD	MGI:1923883
Canis familiaris	LRMDA	VGNC	VGNC:58314
Macaca mulatta	LRMDA	VGNC	VGNC:106074

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

LRMDA - leucine rich melanocyte differentiation associated Gene

关于 LRMDA

功能概要

LRMDA 基因产物(2)

LRMDA 蛋白结构

关联疾病

直系同源

热门区域

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LRMDA - leucine rich melanocyte differentiation associated Gene

关于 LRMDA

功能概要

LRMDA 基因产物(2)

LRMDA 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

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